CPT2
MCID: MYP007
MIFTS: 32

Myopathy Due to Cpt Ii Deficiency (CPT2) malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Myopathy Due to Cpt Ii Deficiency

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48OMIM, 34MalaCards
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MalaCards: Myopathy Due to Cpt Ii Deficiency, also known as carnitine palmitoyl transferase deficiency type 2, adult-onset form, is related to carnitine palmitoyltransferase ii deficiency and dandy-walker syndrome, and has symptoms including hypoglycemia, encephalitis and obnubilation/coma/lethargia/desorientation. An important gene associated with Myopathy Due to Cpt Ii Deficiency is CPT2 (carnitine palmitoyltransferase 2). Affiliated tissues include kidney and liver.

Description from OMIM:48 255110,600649,608836

Aliases & Classifications for Myopathy Due to Cpt Ii Deficiency

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50Orphanet, 48OMIM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
carnitine palmitoyltransferase deficiency type 2:
Inheritance: Autosomal recessive; Age of onset: Variable
carnitine palmitoyl transferase deficiency type 2, adult-onset form:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

myopathy due to cpt ii deficiency 48
carnitine palmitoyl transferase deficiency type 2, adult-onset form 50
carnitine palmitoyl transferase deficiency type 2, myopathic form 50
carnitine palmitoyl transferase ii deficiency, adult-onset form 50
carnitine palmitoyl transferase ii deficiency, myopathic form 50
carnitine palmitoyltransferase deficiency type 2 50
carnitine palmitoyltransferase ii deficiency 50
cptii, adult-onset form 50
cpt2, adult-onset form 50
cptii, myopathic form 50
cpt2, myopathic form 50
cptii 50
cpt2 50


External Ids:

MESH via Orphanet37 C535589
ICD10 via Orphanet27 E71.3
SNOMED-CT via Orphanet60 238002005
UMLS via Orphanet64 C0342790

Related Diseases for Myopathy Due to Cpt Ii Deficiency

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Myopathy Due to Cpt Ii Deficiency:



Diseases related to myopathy due to cpt ii deficiency

Symptoms for Myopathy Due to Cpt Ii Deficiency

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

255110

Clinical features from OMIM:

255110,600649,608836

Symptoms:

50 (show all 22)
  • hypoglycemia
  • encephalitis
  • obnubilation/coma/lethargia/desorientation
  • early death/lethality
  • muscle anomalies
  • myopathy
  • muscle weakness/flaccidity
  • myalgia/muscular pain
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • autosomal recessive inheritance
  • asthenia/fatigue/weakness
  • renal failure
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • intracranial/cerebral calcifications
  • abnormal hepatic enzymes/transaminases
  • cardiomyopathy/hypertrophic/dilated
  • renal/kidney anomalies
  • seizures/epilepsy/absences/spasms/status epilepticus
  • cardiac rhythm disorder/arrhythmia
  • multicystic kidney/renal dysplasia
  • structural anomalies of the nervous system
  • hepatomegaly/liver enlargement (excluding storage disease)

Drugs & Therapeutics for Myopathy Due to Cpt Ii Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Myopathy Due to Cpt Ii Deficiency

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Anatomical Context for Myopathy Due to Cpt Ii Deficiency

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34MalaCards
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MalaCards organs/tissues related to Myopathy Due to Cpt Ii Deficiency:

34
Kidney, Liver

Animal Models for Myopathy Due to Cpt Ii Deficiency or affiliated genes

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Publications for Myopathy Due to Cpt Ii Deficiency

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Variations for Myopathy Due to Cpt Ii Deficiency

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Myopathy Due to Cpt Ii Deficiency:

65 (show all 20)
id Symbol AA change Variation ID SNP ID
1CPT2p.Pro50HisVAR_001391rs28936674
2CPT2p.Ser113LeuVAR_001392rs74315294
3CPT2p.Glu174LysVAR_001393rs28936674
4CPT2p.Phe383TyrVAR_001396rs28936673
5CPT2p.Asp553AsnVAR_001397rs28936376
6CPT2p.Tyr628SerVAR_001398rs28936673
7CPT2p.Arg631CysVAR_001399
8CPT2p.Met214ThrVAR_007966
9CPT2p.Pro227LeuVAR_007967
10CPT2p.Phe448LeuVAR_007968
11CPT2p.Tyr479PheVAR_007969
12CPT2p.Arg503CysVAR_007970
13CPT2p.Gly549AspVAR_007971rs186044004
14CPT2p.Arg151GlnVAR_020540
15CPT2p.Tyr210AspVAR_020541
16CPT2p.Arg296GlnVAR_020542
17CPT2p.Gln550ArgVAR_020543
18CPT2p.Gly600ArgVAR_020544
19CPT2p.Pro604SerVAR_020545
20CPT2p.Asp213GlyVAR_037976

Clinvar genetic disease variations for Myopathy Due to Cpt Ii Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1CPT2NM_000098.2(CPT2): c.1342T> C (p.Phe448Leu)single nucleotide variantPathogenicrs74315297GRCh37Chr 1, 53676688: 53676688
2CPT2NM_000098.2(CPT2): c.1891C> T (p.Arg631Cys)single nucleotide variantPathogenicrs74315293GRCh37Chr 1, 53679181: 53679181
3CPT2NM_000098.2(CPT2): c.338C> T (p.Ser113Leu)single nucleotide variantPathogenicrs74315294GRCh37Chr 1, 53668099: 53668099
4CPT2NM_000098.2(CPT2): c.149C> A (p.Pro50His)single nucleotide variantPathogenicrs28936375GRCh37Chr 1, 53662764: 53662764
5CPT2NM_000098.2(CPT2): c.1657G> A (p.Asp553Asn)single nucleotide variantPathogenicrs28936376GRCh37Chr 1, 53678947: 53678947
6CPT2NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser)single nucleotide variantPathogenicrs28936673GRCh37Chr 1, 53679173: 53679173
7CPT2NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr)single nucleotide variantPathogenicrs74315295GRCh37Chr 1, 53676494: 53676494
8CPT2NM_000098.2(CPT2): c.1360G> T (p.Glu454Ter)single nucleotide variantPathogenicrs74315299GRCh37Chr 1, 53676706: 53676706
9CPT2NM_000098.2(CPT2): c.638A> G (p.Asp213Gly)single nucleotide variantPathogenicrs74315300GRCh37Chr 1, 53675984: 53675984

Expression for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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Pathways for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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Compounds for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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GO Terms for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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Products for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myopathy Due to Cpt Ii Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet